Luz verde a un ensayo clínico con calcitriol para validar su potencial terapéutico para tratar la Ataxia de Friedreich

Comunicación y Prensa IRBLleida; Lunes, 7 de junio de 2021

Un ensayo clínico podría validar el uso del calcitriol, la forma activa de la vitamina D, para tratar la Ataxia de Friedreich, tal como propone el grupo de investigación Bioquímica del Estrés Oxidativo del Instituto de Investigación Biomédica de Lleida (IRBLleida) y la Universidad de Lleida (UdL). Su investigación es la base de este ensayo que realizarán la Unidad de Ataxias del Hospital Josep Trueta de Girona y del Hospital Santa Caterina del Parc Hospitalari Martí i Julià de Salt conjuntamente con el Instituto de Investigación Biomédica de Girona (IDIBGI).

A clinical trial with calcitriol has begun to validate its therapeutic potential for treating Friedreich's Ataxia

Biotech-spain.com; 07/06/2021 

A clinical trial could validate the use of calcitriol, the active form of vitamin D, to treat Friedreich's Ataxia, as proposed by the Biochemistry of Oxidative Stress Group at the Biomedical Research Institute of Lleida (IRBLleida) and the University of Lleida (UdL). Their research is the basis of this trial to be carried out by the Ataxia Unit of the Josep Trueta Hospital in Girona and the Santa Caterina Hospital of the Parc Hospitalari Martí i Julià de Salt in conjunction with the Institute for Research in Biomedicine of Girona (IDIBGI).

6 Clinical presentation and outcomes of childhood hypertrophic cardiomyopathy associated with friedreich’s ataxia: a national cohort study

Rance T, Norrish G; Heart 2021;107:A5. doi:10.1136/heartjnl-2021-BCS.

This national study of childhood FA-HCM is the largest cohort reported to date and describes a high prevalence of atrial arrhythmias and early progression to end-stage disease. Overall mortality is similar to that reported in non-syndromic childhood HCM but no patients died suddenly.

Quantitative Assessment of Friedreich Ataxia via Self-Drinking Activity

R. Krishna, P. N. Pathirana, M. K. Horne, L. A. Corben and D. J. Szmulewicz; IEEE Journal of Biomedical and Health Informatics, vol. 25, no. 6, pp. 1985-1996, June 2021, doi: 10.1109/JBHI.2021.3069007. 

Effective monitoring of the progression of neurodegenerative conditions can be significantly improved by objective assessments. Clinical assessments of conditions such as Friedreich's Ataxia (FA), currently rely on subjective measures commonly practiced in clinics as well as the ability of the affected individual to perform conventional tests of the neurological examination. In this study, we propose an ataxia measuring device, in the form of a pressure canister capable of sensing certain kinetic and kinematic parameters of interest to quantify the impairment levels of participants particularly when engaged in an activity that is closely associated with daily living. In particular, the functional task of simulated drinking was utilised to capture characteristic features of disability manifestation in terms of diagnosis (separation of individuals with FA and controls) and severity assessment of individuals diagnosed with the debilitating condition of FA. Time and frequency domain analysis of these biomarkers enabled the classification of individuals with FA and control subjects to reach an accuracy of 98% and a correlation level reaching 96% with the clinical scores.

Coexistence of Tyrosinemia and Friedreich Ataxia in a Single Patient: Treatment with Liver Transplantation

Diya Cherian, Kimberly Schadt, Courtney Park, Stephanie Veasey, David Goldberg, David Lynch; Ann Case Report 6: 581. DOI: 10.29011/2574-7754.100581

Here we describe a young woman with coincidental presence of both FRDA and HT1, focusing on possible interactions between HT1 and FRDA, as well as her treatment by liver transplantation.

Rescue of central and peripheral neurological phenotype of friedreich's ataxia by intravenous delivery

Application US16/651,617- Assigned to VOYAGER THERAPEUTICS, INC. 

Described herein are compositions and methods for treating Friedreich's Ataxia (FA) using adeno-associated virus (AAV) to deliver therapeutics agents.

AavantiBio lands manufacturing partner in Friedreich's Ataxia program; NC Research Triangle lands another CDMO

June 3, 2021. ENDPOINTNEWS. AavantiBio and Resilience have announced a collaboration to manufacture a pipeline of therapies, including AavantiBio’s Friedreich’s Ataxia program, the company announced Thursday. 

The new facility will double its existing footprint, and support development, clinical and small-scale commercial manufacturing. The site is just a few miles from its current office, and will meet all FDA, EMA and GMP requirements, the company said.

FARA FA Pipeline Webinar - Jun 2, 2021

Molecular Details of the Frataxin–Scaffold Interaction during Mitochondrial Fe–S Cluster Assembly

Campbell, C.J.; Pall, A.E.; Naik, A.R.; Thompson, L.N.; Stemmler, T.L.; Int. J. Mol. Sci. 2021, 22, 6006. doi:10.3390/ijms22116006

Molecular Details of the Frataxin–Scaffold Interaction during Mitochondrial Fe–S Cluster Assembly

Results of a randomized double-blind study evaluating luvadaxistat in adults with Friedreich ataxia

Hao Wang, Jonathan Norton, Lin Xu, Nicholas DeMartinis, Rohini Sen, Ankit Shah, Jennifer Farmer, David Lynch; Annals of Clinical and Translational Neurology. 2021 May. DOI: 10.1002/acn3.51373.

Luvadaxistat (also known as TAK-831; NBI-1065844) was safe and well tolerated in this cohort of adults with FRDA; however, it did not demonstrate efficacy as a treatment for this condition.